Essentials of Medical Genomics - Hardcover

Brown, Stuart M.; Hay, John G.; Ostrer, Harry

Hardcover

ISBN 10: 047121003X ISBN 13: 9780471210030

Publisher: Wiley-Liss, 2002

Synopsis

This introductory reference provides a practical, concise summary of everything a physician needs to know about genomics and emerging technologies. Through extensive illustrative examples, this book offers a clear and concise starting point to understanding how medicine has been, and will be, transformed by genomics and bioinformatics. Beginning with a clear overview on the Human Genome Project and its revolutionary impact, the book further investigates new technologies in detail, including: high-throughput DNA sequencing, genome sequence databases, microarrays, proteomics, pharmacogenomics, genetic testing, and gene therapy.

About this title

From the Back Cover

New and emerging technologies, particularly in the areas of molecular genetic diagnostics and gene therapy, are having an unprecedented impact on medicine. Physicians and medical students need to understand these revolutionary developments and their role in clinical practice. Stuart Brown?s Essentials of Medical Genomics fills this need, providing a concise, clearly written guide to the state of the art in genomic research, and explaining in easy-to-follow terms how it is changing the way patients are diagnosed and treated.

Richly illustrated throughout, each chapter in Essentials of Medical Genomics focuses on the informational needs of practitioners. Beginning with a clear overview on the Human Genome Project and its revolutionary impact, this "essentials only" guide then covers such key topics as bioinformatics and online resources for practitioners. Other chapter topics include:

• Genetic testing
• Microarray analysis
• Proteomics
• Genome databases
• Pharmacogenomics and toxicogenomics
• Gene therapy
• Ethical considerations

Essentials of Medical Genomics is the first of its kind to provide a practical introduction to genomics as it impinges upon clinical practice. Medical students and physicians will benefit handsomely from this pioneer text.

Reviews

Though it might seem like the ultimate reductionist approach, the sequencing of the human genome is in fact a major advance toward achieving an integrated understanding of physiology. Contrary to the commonly used metaphor, a genome is not a ladder with genes as rungs. There is complexity to the structure and organization of the genome, just as there is complexity to the developmental, metabolic, and other pathways that make up biologic systems. Genomics, and its sibling proteomics, provide essential tools for moving beyond the characterization of individual components of these complex systems and beginning the task of understanding how they are put together to make cells, tissues, organisms, and populations. In Essentials of Medical Genomics, Stuart Brown provides a "philosophical definition" of genomics, calling it "a holistic or systems approach to information flow within the cell." Extreme claims, including both extravagant promises and dire warnings, have been made about the potential medical applications of genomics. There are already several molecular tests that are used routinely for diagnosis or risk assessment. As genomic approaches continue to help unravel pathophysiological mechanisms, new ways to diagnose and treat both rare and common disorders will emerge. It is becoming increasingly important to train physicians in this new discipline, in part to prepare them to use these new tools wisely and in part to allow recognition of clinical-research opportunities. The time is right to include genomics in the medical-education curriculum, and thus there is a need for books that can help guide the way. Essentials of Medical Genomics is a readable account of the underpinnings of genomics and its medical applications, with an intensive focus on technology. About a century of research on genetics and molecular biology is covered in the first chapter. Following that there is a tour through approaches to gene cloning, bioinformatics, the nature of genetic variation, pharmacogenetics, the use of microarrays, and proteomics. The author describes himself as a molecular biologist specializing in bioinformatics; he is not a physician. The two chapters that focus on medical applications -- one on genetic testing (by Harry Ostrer) and one on gene therapy (by John G. Hay) -- were contributed by physicians who are immersed in those disciplines. The chapter on gene therapy is a particularly lucid account that places the challenges and prospects of this difficult area into perspective. The final chapter of the book is devoted to ethical issues raised by genomics in medicine. The discussion is important, though parts of the chapter have a sermonic tone. Brown's book is based on an elective course on this topic taught by the author. As such, it may be understandable that some areas of importance are given only brief coverage or are not covered at all. Presumably these topics, such as patterns of inheritance and the molecular basis for dominant and recessive traits, are covered in a separate genetics course. Likewise, the principles of cancer genetics are not described, although related topics, such as the use of microarrays to classify tumors, are covered. There is a discussion of the use of genetic testing in presymptomatic diagnosis in persons at risk for cancer, but not of the concepts of nonpenetrance or tumor-suppressor genes. This narrow focus may be a handicap if the book is used as a stand-alone resource in a comprehensive course on genetics and genomics. This is a clearly written book that makes a complex discipline understandable. The emphasis is on broad concepts, with relatively little technical detail to distract the reader. The style is informal, even colloquial; for example, in referring to the development of the polymerase chain reaction, Brown writes, "A lot of scientists were slapping themselves on the forehead when Mullis picked up the Nobel prize in 1993." There are many illustrations, although most are of relatively simple design; little has changed from what were probably lecture slides. How much will physicians need to know about the technology of genomics in order to use this approach in their practice? Most are accustomed to ordering magnetic resonance imaging scans, yet very few could explain the physics involved. Probably not many physicians could explain how a complete blood count is now obtained, although most are familiar with the indications for obtaining it and its interpretations. The basic-science curriculum in medical education is predicated on the belief that some working knowledge of the underpinnings of a field is necessary for physicians to be sophisticated users of technology-intensive tests. Medical genomics is a nascent field, so it remains to be seen to what extent the technology will become submerged, leaving physicians to deal with a more user-friendly interface. Essentials of Medical Genomics provides an approachable introduction to a discipline that is likely to remain an engine of progress in medical science, at least through the coming generation. Bruce R. Korf, M.D., Ph.D.
Copyright © 2003 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.

Edition details

• Publisher: Wiley-Liss
• Publication date: 2002
• Language: English
• ISBN 10: 047121003X
• ISBN 13: 9780471210030
• Binding: Hardcover
• Edition number: 1
• Number of pages: 274